Singapore: Researchers from Kennedy Krieger Institute, US, have found a genetic mutation that occurs before birth and can lead to Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one child in 20,000 births, while port-wine birthmarks are more common.

Sturge-Weber syndrome is a neurological and skin disorder associated with port-wine birthmarks on the face, glaucoma, seizures, intellectual impairment and weakness on one or both sides of the body. Current treatment options for children with SWS are limited, but include medications to reduce the likelihood of seizures and stroke-like episodes, eye drops and/or surgery to manage glaucoma, and physical rehabilitation.

Port-wine stain birthmarks are caused by abnormally dilated capillaries in the skin, which produce reddish to purplish discoloration. While a facial port-wine birthmark can be associated with SWS, they occur commonly in otherwise healthy individuals. Physicians may perform several painful laser treatments to attempt to remove the port-wine birthmark in infant children, but it often reoccurs.

Dr Anne Comi, co-senior study author and director, Hunter Nelson Sturge-Weber Center, Kennedy Krieger Institute, said that, "This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks. Now that we know the underlying genetic mutation responsible for both conditions, we're hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time."

Dr Jonathan Pevsner, co-senior study author and director, bioinformatics, Kennedy Krieger Institute, said that, "This study presents a turning point for research on Sturge-Weber syndrome and port-wine birthmarks. While we suspected that a somatic mutation was the cause for decades now, the technology to test the theory didn't exist. The advancements in whole genome sequencing and the development of next-generation sequencing tools finally allowed my lab to test and prove the hypothesis."